검색결과 : 8건
| No. | Article |
|---|---|
| 1 |
Mitochondrial double-stranded RNA triggers antiviral signalling in humans Dhir A, Dhir S, Borowski LS, Jimenez L, Teitell M, Rotig A, Crow YJ, Rice GI, Duffy D, Tamby C, Nojima T, Munnich A, Schiff M, de Almeida CR, Rehwinkel J, Dziembowski A, Szczesny RJ, Proudfoot NJ Nature, 560(7717), 238, 2018 |
| 2 |
MED23 Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly JM, Colleaux L Science, 333(6046), 1161, 2011 |
| 3 |
Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts Chretien D, Benit P, Chol M, Lebon S, Rotig A, Munnich A, Rustin P Biochemical and Biophysical Research Communications, 301(1), 222, 2003 |
| 4 |
Expression study of genes involved in iron metabolism in human tissues Rotig A, Chantrel-Groussard K, Munnich A, Rustin P Biochemical and Biophysical Research Communications, 281(3), 804, 2001 |
| 5 |
Defective Myosin VIIa Gene Responsible for Usher Syndrome Type 1B Well D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levillers J, Weston MD, Kelley PM, Kimberling WJ, Wagenaar M, Leviacobas F, Largetpiet D, Munnich A, Steel KP, Brown SD, Petit C Nature, 374(6517), 60, 1995 |
| 6 |
Mutations of the Ret Protooncogene in Hirschsprungs-Disease Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoulfekete C, Ponder BA, Munnich A Nature, 367(6461), 378, 1994 |
| 7 |
Mutations in the Gene Encoding Fibroblast Growth-Factor Receptor-3 in Achondroplasia Rousseau F, Bonaventure J, Legeaimallet L, Pelet A, Rozet JM, Maroteaux P, Lemerrer M, Munnich A Nature, 371(6494), 252, 1994 |
| 8 |
De-Novo and Inherited Deletions of the 5Q13 Region in Spinal Muscular Atrophies Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Benichou B, Zeviani M, Lepaslier D, Cohen D, Weissenbach J, Munnich A Science, 264(5164), 1474, 1994 |